View unique variants in gene CFTR

Information The variants shown are described using the NM_000492.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./? 1 13 c.1684G>C r.(?) p.(Val562Leu) g.117230411G>C - CFTR_000003 - Florian Bayersdorfer
?/? 1 15 c.2502T>G r.(?) p.(Phe834Leu) g.117234995T>G - CFTR_000002 - Florian Bayersdorfer
?/. 1 27 c.4243-21_4243-18delCACT r.(=) p.(=) g.117306941_117306944delCACT - CFTR_000001 - Florian Bayersdorfer
Legend